Diagnosis of Edwards’ Syndrome
The diagnosis of Edwards’ syndrome can happen during pregnancy or shortly after birth. Since Edwards’ syndrome leads to a wide range of physical abnormalities, doctors may suspect the condition early, especially when routine pregnancy scans show signs of abnormal growth or development. Early diagnosis gives families more time to understand the condition and prepare for possible outcomes.
In pregnancy, screening tests are often the first step. These include:
Ultrasound scans, which may detect physical features such as low foetal weight, heart defects, or clenched hands
Maternal blood tests, which check for abnormal levels of proteins and hormones that may signal a chromosomal condition
Non-invasive prenatal testing (NIPT), which analyses foetal DNA in the mother’s blood to detect extra chromosomes
These screenings cannot confirm the condition but can indicate a higher risk. If results show a high chance of Edwards’ syndrome, doctors may recommend diagnostic tests such as:
Chorionic villus sampling (CVS) – done around 10–13 weeks, where a small piece of placental tissue is tested
Amniocentesis – done around 15–20 weeks, where a sample of amniotic fluid is tested for chromosomal abnormalities
Both tests carry a small risk of miscarriage but provide a definitive diagnosis by checking the baby’s chromosomes directly.
After birth, a baby showing typical signs—such as clenched fists, small jaw, or heart problems—may be tested using a karyotype analysis, which examines the number and structure of chromosomes. This test confirms whether full, mosaic, or partial trisomy 18 is present.
Diagnosis of Edwards’ Syndrome
In South Africa, access to these prenatal tests may vary widely depending on whether a woman uses public or private healthcare. While private clinics in urban areas often offer NIPT and early ultrasounds, many rural facilities may only detect the condition after birth. This highlights the importance of strengthening prenatal services across the country.
Once a diagnosis is confirmed, genetic counselling is usually offered to help parents understand the condition, possible outcomes, and future reproductive choices. Counsellors provide information in an empathetic way, helping families process complex emotions during a difficult time.
The diagnosis of Edwards’ syndrome gives families a clearer understanding of their child’s health and life expectancy. It also allows healthcare professionals to plan the most appropriate care and support.
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